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https://www.readbyqxmd.com/read/28548312/vitamin-d-dependent-rickets-type-1b-25-hydroxylase-deficiency-a-rare-condition-or-a-misdiagnosed-condition
#1
Molin A, Wiedemann A, Demers N, Kaufmann M, Do Cao J, Mainard L, Dousset B, Journeau P, Abeguile G, Coudray N, Mittre H, Richard N, Weryha G, Sorlin A, Jones G, Kottler Ml, Feillet F
Vitamin D requires a two-step activation by hydroxylation: the first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2), and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with Vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from two unrelated families who presented with homozygous loss-of-function mutations of CYP2R1...
May 26, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28547952/mir-150-up-regulates-glut1-and-increases-glycolysis-in-osteosarcoma-cells
#2
Guangke Yuan, Yanqing Zhao, Dongjin Wu, Chunzheng Gao
Objective: Osteosarcoma (OS) is the most common malignant bone tumor in children and young adults. Many studies have shown that microRNAs play a critical role in proliferation and metastasis with this tumour type. However, whether aberrant expression might contribute to a metabolism switch in osteosarcoma cases is not clearly understood. In this study, we explored expression and function of miR-150 in osteosarcoma cells. Materials and methods: Expression of miR-150 was assessed by real-time PCR in cell lines and human patient tissues...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28546856/epigenetic-regulation-of-runx2-transcription-and-osteoblast-differentiation-by-nicotinamide-phosphoribosyltransferase
#3
Min Ling, Peixin Huang, Shamima Islam, Daniel P Heruth, Xuanan Li, Li Qin Zhang, Ding-You Li, Zhaohui Hu, Shui Qing Ye
BACKGROUND: Bone degenerative disorders like osteoporosis may be initiated by age-related shifts in anabolic and catabolic responses that control bone homeostasis. Although there are studies suggesting that metabolic changes occur with stem cell differentiation, the molecular mechanisms governing energy metabolism and epigenetic modification are not understood fully. Here we reported the key role of nicotinamide phosphoribosyltransferase (Nampt), which is the rate-limiting enzyme in the salvage pathway of NAD biosynthesis from nicotinamide, in the osteogenic differentiation of bone marrow stromal cells...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28546545/extensive-phenotypic-characterization-of-a-new-transgenic-mouse-reveals-pleiotropic-perturbations-in-physiology-due-to-mesenchymal-hgh-minigene-expression
#4
Aimilios Kaklamanos, Jan Rozman, Manolis Roulis, Niki Karagianni, Maria Armaka, Moya Wu, Laura Brachthäuser, Julia Calzada-Wack, Marion Horsch, Johannes Beckers, Birgit Rathkolb, Thure Adler, Frauke Neff, Eckhard Wolf, Valerie Gailus-Durner, Helmut Fuchs, Martin Hrabe de Angelis, George Kollias
The human growth hormone (hGH) minigene used for transgene stabilization in mice has been recently identified to be locally expressed in the tissues where transgenes are active and associated with phenotypic alterations. Here we extend these findings by analyzing the effect of the hGH minigene in TgC6hp55 transgenic mice which express the human TNFR1 under the control of the mesenchymal cell-specific CollagenVI promoter. These mice displayed a fully penetrant phenotype characterized by growth enhancement accompanied by perturbations in metabolic, skeletal, histological and other physiological parameters...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28545737/microrna-146a-governs-fibroblast-activation-and-joint-pathology-in-arthritis
#5
Victoria Saferding, Antonia Puchner, Eliana Goncalves-Alves, Melanie Hofmann, Michael Bonelli, Julia S Brunner, Emine Sahin, Birgit Niederreiter, Silvia Hayer, Hans P Kiener, Elisa Einwallner, Ramzi Nehmar, Raphael Carapito, Philippe Georgel, Marije I Koenders, Mark Boldin, Gernot Schabbauer, Mariola Kurowska-Stolarska, Günter Steiner, Josef S Smolen, Kurt Redlich, Stephan Blüml
Synovial fibroblasts are key cells orchestrating the inflammatory response in arthritis. Here we demonstrate that loss of miR-146a, a key epigenetic regulator of the innate immune response, leads to increased joint destruction in a TNF-driven model of arthritis by specifically regulating the behavior of synovial fibroblasts. Absence of miR-146a in synovial fibroblasts display a highly deregulated gene expression pattern and enhanced proliferation in vitro and in vivo. Deficiency of miR-146a induces deregulation of tumor necrosis factor (TNF) receptor associated factor 6 (TRAF6) in synovial fibroblasts, leading to increased proliferation...
May 22, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28545316/lower-extremity-fractures-in-patients-with-spinal-cord-injury-characteristics-outcome-and-risk-factors-for-non-unions
#6
Lukas Grassner, Barbara Klein, Doris Maier, Volker Bühren, Matthias Vogel
CONTEXT: Sublesional osteoporosis is an important sequel after spinal cord injury (SCI) resulting in a high incidence of fractures and impaired osseous healing due to altered bone metabolism. The following study aims to identify demographic characteristics and outcome of patients with SCI with lower extremity fractures. DESIGN: Retrospective observational study. SETTING: Level-I cross-regional trauma center. PARTICIPANTS: All patients with SCI suffering from osteoporotic/pathologic fractures during an 11-year-period (01/2003-12/2013) at the Center for Spinal Cord Injuries (Trauma Center Murnau) were analyzed via a chart review...
May 25, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28545150/total-hip-knee-arthroplasty-in-the-treatment-of-tumor-induced-osteomalacia-patients-more-than-1-year-follow-up
#7
Wei Zhu, Qi Ma, Yanyan Bian, Qianyu Zhuang, Zenan Xia, Jin Jin, Xisheng Weng
BACKGROUND: Tumor-induced osteomalacia (TIO) may result in a better prognosis after complete resection of the causative neoplasm. However, tumors located proximal to the articular surface of the metaphysis remain largely uninvestigated. METHODS: A retrospective study of sixteen patients was undertaken to evaluate treatment of tumors with joint arthroplasty and tumor resection. The bone metabolism index, hip/knee joint function, arthroplasty complications and symptoms were followed up for at least 12 months in each patient...
2017: PloS One
https://www.readbyqxmd.com/read/28544596/deletion-of-the-prostaglandin-d2-receptor-dp1-exacerbates-aging-associated-and-instability-induced-osteoarthritis
#8
Yassine Ouhaddi, Sarah-Salwa Nebbaki, Lauris Habouri, Hassan Afif, Bertrand Lussier, Mohit Kapoor, Shuh Narumiya, Jean-Pierre Pelletier, Johanne Martel-Pelletier, Mohamed Benderdour, Hassan Fahmi
OBJECTIVE: The D prostanoid receptor 1 (DP1), a receptor for prostaglandin D2 (PGD2 ), plays important roles in inflammation and cartilage metabolism. However, its role in the pathogenesis of osteoarthritis (OA) remains unknown. We undertook this study to explore the roles of DP1 in the development of OA and to evaluate the efficacy of a DP1 selective agonist in the treatment of OA. METHODS: We compared the development of aging-associated OA and destabilization of the medial meniscus (DMM)-induced OA in DP1-deficient (DP1-/-) and wild-type (WT) mice...
May 23, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28543814/intra-and-interindividual-variability-of-fatty-acid-unsaturation-in-six-different-human-adipose-tissue-compartments-assessed-by-1-h-mrs-in-vivo-at-3%C3%A2-t
#9
Jürgen Machann, Norbert Stefan, Robert Wagner, Malte Bongers, Erwin Schleicher, Andreas Fritsche, Hans-Ulrich Häring, Konstantin Nikolaou, Fritz Schick
It is generally accepted that the amount and distribution of adipose tissue (AT) in the human body play an important role in the pathogenesis of metabolic diseases. In addition, metabolic effects of released saturated fatty acids (FAs) in blood are known to be more critical than those of unsaturated FAs. However, little is known about the variability in unsaturation of FAs in various AT compartments. The aim of this prospective study was the assessment of mono- and polyunsaturated FAs in various AT compartments by localized (1) H-MRS in order to obtain insight into the intra- and interindividual variability...
May 25, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28542246/a-drastic-superoxide-dependent-oxidative-stress-is-prerequisite-for-the-down-regulation-of-irp1-insights-from-studies-on-sod1-deficient-mice-and-macrophages-treated-with-paraquat
#10
Anna Milczarek, Rafał R Starzyński, Agnieszka Styś, Aneta Jończy, Robert Staroń, Agnieszka Grzelak, Paweł Lipiński
Iron regulatory protein 1 (IRP1) is a cytosolic bifunctional [4Fe-4S] protein which exhibits aconitase activity or binds iron responsive elements (IREs) in untranslated regions of specific mRNA encoding proteins involved in cellular iron metabolism. Superoxide radical (O2.-) converts IRP1 from a [4Fe-4S] aconitase to a [3Fe-4S] "null" form possessing neither aconitase nor trans-regulatory activity. Genetic ablation of superoxide dismutase 1 (SOD1), an antioxidant enzyme that acts to reduce O2.- concentration, revealed a new O2...
2017: PloS One
https://www.readbyqxmd.com/read/28542241/signification-of-distal-urinary-acidification-defects-in-hypocitraturic-patients
#11
Valentina Forni Ogna, Anne Blanchard, Rosa Vargas-Poussou, Adam Ogna, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Prot-Bertoye, Jérôme Nevoux, Julie Dubourg, Gérard Maruani, Margarida Mendes, Alejandro Garcia-Castaño, Cyrielle Treard, Nelly Lepottier, Pascal Houillier, Marie Courbebaisse
BACKGROUND AND OBJECTIVES: Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. MATERIALS AND METHODS: This retrospective observational study included 67 patients (32 men), aged 40.7±15.1 years with hypocitraturia (<1.67 mmol/24-h) and nephrolithiasis, nephrocalcinosis, and/or bone demineralization, referred to our center from 2000 to 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28540890/prevalence-of-osteoporosis-in-patients-with-chronic-kidney-disease-stages-3-5-in-comparison-with-age-and-sex-matched-controls-a-study-from-kashmir-valley-tertiary-care-center
#12
M Saleem Najar, Mohamad Muzzafer Mir, Mudasir Muzamil
Chronic kidney disease (CKD) is associated with a range of metabolic bone diseases. Fracture rates are higher in CKD patients than age-matched controls throughout all the five stages of CKD. Dialysis patients have 4 times as many hip fractures as expected for their age. CKD forms an independent risk factor for osteoporosis, even in the absence of traditional risk factors. This study was carried out at the nephrology unit in a tertiary care center of Kashmir to know the prevalence of osteoporosis in CKD patients having glomerular filtration rate (GFR) <60 mL/min (stages 3-5)...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28540650/awareness-of-osteoporosis-in-a-polytechnic-in-enugu-south-east-nigeria
#13
R Njeze Ngozi, Obi Ikechukwu, Ajuba Miriam, Agwu-Umahi Olanike, D Akpagbula Ulugo, C Njeze Nneze
This study aims to determine the awareness of osteoporosis and factors that determine awareness of osteoporosis. Results showed that osteoporosis awareness was associated with age (p = 0.006) and occupation (p < 0.001) but not gender, marital status, and level of education. There is therefore need for educational interventions to improve awareness of osteoporosis. INTRODUCTION: Osteoporosis is a bone disease in which the bone becomes porous, brittle, and more susceptible to fracture...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28540603/positioning-novel-biologicals-in-ckd-mineral-and-bone-disorders
#14
REVIEW
Lida Tartaglione, Marzia Pasquali, Silverio Rotondi, Maria Luisa Muci, Adrian Covic, Sandro Mazzaferro
Renal osteodystrophy (ROD), the histologic bone lesions of chronic kidney disease (CKD), is now included in a wider syndrome with laboratory abnormalities of mineral metabolism and extra-skeletal calcifications or CKD-mineral and bone disorders (CKD-MBD), to highlight the increased burden of mortality. Aging people, frequently identified as early CKD, could suffer from either the classical age-related osteoporosis (OP) or ROD. Distinguishing between these two bone diseases may not be easy without bone biopsy...
May 24, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28540602/late-conversion-from-tacrolimus-to-a-belatacept-based-immuno-suppression-regime-in-kidney-transplant-recipients-improves-renal-function-acid-base-derangement-and-mineral-bone-metabolism
#15
Kevin Schulte, Clara Vollmer, Vera Klasen, Jan Hinrich Bräsen, Jodok Püchel, Christoph Borzikowsky, Ulrich Kunzendorf, Thorsten Feldkamp
BACKGROUND: Calcineurin inhibitor (CNI)-induced nephrotoxicity and chronic graft dysfunction with deteriorating glomerular filtration rate (GFR) are common problems of kidney transplant recipients. The aim of this study was to analyze the role of belatacept as a rescue therapy in these patients. METHODS: In this retrospective, observational study we investigated 20 patients (10 females, 10 males) who were switched from a CNI (tacrolimus) to a belatacept-based immunosuppression because of CNI intolerance or marginal transplant function...
May 24, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28540268/effects-of-high-and-low-doses-of-folic-acid-on-the-soluble-receptor-activator-of-nuclear-factor-kappa-b-ligand-osteoprotegerin-ratio-during-pregnancy
#16
Nazila Fathi Maroufi, Amir Ghorbanihaghjo, Manizheh Sayyah Melli, Maryam Vaezi, Zohreh Hekmati Azar Mehrabani, Maryam Bannazadeh Amirkhiz, Nadereh Rashtchizadeh
BACKGROUND: Pregnancy Associated Osteoporosis (PAO) can lead to serious difficulties such as fragility fractures, elongated back pain and height loss in affected women. Soluble Receptor Activator of Nuclear Factor-Kappa B ligand (sRANKL) to Osteoprotegerin (OPG) ratio is chosen as a bone metabolism equation in many bone diseases characterized by bone resorption, such as post-menopausal osteoporosis and would be modified with folic acid supplementation. This study was done to compare the effects of high dose (5mg/day) and low dose (0...
April 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28538835/ghrelin-plasma-levels-gastric-ghrelin-cell-density-and-bone-mineral-density-in-women-with-rheumatoid-arthritis
#17
F A N Maksud, A M Kakehasi, M F B R Guimarães, C J Machado, A J A Barbosa
Generalized bone loss can be considered an extra-articular manifestation of rheumatoid arthritis (RA) that may lead to the occurrence of fractures, resulting in decreased quality of life and increased healthcare costs. The peptide ghrelin has demonstrated to positively affect osteoblasts in vitro and has anti-inflammatory actions, but the studies that correlate ghrelin plasma levels and RA have contradictory results. We aimed to evaluate the correlation between total ghrelin plasma levels, density of ghrelin-immunoreactive cells in the gastric mucosa, and bone mineral density (BMD) in twenty adult women with established RA with 6 months or more of symptoms (mean age of 52...
May 18, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28537457/inhibition-of-mtor-kinase-as-a-therapeutic-target-for-acute-myeloid-leukemia
#18
Yoko Tabe, Agostino Tafuri, Kazumasa Sekihara, Haeun Yang, Marina Konopleva
Acute myeloid leukemia (AML), the most common acute leukemia in adults, remains a therapeutic challenge. The phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin (PI3K/AKT/mTOR) signaling pathway is one of the key aberrant intracellular axes involved in AML. Areas covered: mTOR plays a critical role in sensing and responding to environmental determinants such as nutrient availability, stress, and growth factor concentrations; and in modulating key cellular functions such as proliferation, metabolism, and survival...
May 24, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28537241/-fibroblast-growth-factor-receptor-1-propagates-estrogen-and-fluid-shear-stress-driven-proliferation-and-differentiation-response-in-mc3t3-e1-cells
#19
J Y Li, S G Liu, G N Xiao, M Y Mao, X W Zhang, H Q Sun
Fluid shear stress (FSS) and estrogen exposure positively regulate bone metabolism. Fibroblast growth factor receptor 1 (FGFR1) plays a vital role in FSS-induced osteogenesis. An in vitro experiment with MC3T3-E1 cells combined with microarray analysis aided us in identification of the genes differentially expressed in response to FSS and highlighted the role of FGFR1 in this process. Both estrogen exposure and FSS increase methyl thiazol tetrazolium (MTT) values and alkaline phosphatase (ALP) activity, as well as the levels of Runt-related transcription factor 2 (Runx2) and osteocalcin (OCN)...
March 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28536889/the-phenotype-of-patients-with-a-recent-fracture-a-literature-survey-of-the-fracture-liaison-service
#20
REVIEW
Lisanne Vranken, Caroline E Wyers, Joop P W van den Bergh, Piet P M M Geusens
The aetiology of fractures in patients aged 50 years and older is multifactorial, and includes bone- and fall-related risks. The Fracture Liaison Service (FLS) is recommended to identify patients with a recent fracture and to evaluate their subsequent fracture risk, in order to take measures to decrease the risk of subsequent fractures in patients with a high risk phenotype. A literature survey was conducted to describe components of the bone- and fall-related phenotype of patients attending the FLS. Components of the patient phenotype at the FLS have been reported in 33 studies...
May 24, 2017: Calcified Tissue International
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